Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Serologically defined colon cancer antigen 8

The gene SDCCAG8 encodes a centrosome associated protein, whose function is associated with interphase regulation during mitosis. Mutations cause various recessive ciliopathies such as Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, and Nephronophthisis 10.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Nephronophthisis 10
SDCCAG8
Senior-Loken syndrome 7
SDCCAG8
Bardet-Biedl syndrome 16
SDCCAG8

References:

1.

Chaki M et al. (2012) Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

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2.

Otto EA et al. (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

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3.

Billingsley G et al. (2012) Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.

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4.

Scanlan MJ et al. (1998) Characterization of human colon cancer antigens recognized by autologous antibodies.

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5.

Kenedy AA et al. (2003) Identification and characterization of the novel centrosome-associated protein CCCAP.

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6.

OMIM.ORG article

Omim 613524 [^]
7.

Orphanet article

Orphanet ID 244364 [^]
8.

NCBI article

NCBI 10806 [^]
9.

Wikipedia article

Wikipedia EN (SDCCAG8) [^]
Update: April 29, 2019